Disease: Hyporeflexia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACAT1 P24752 acetyl-CoA acetyltransferase 1 Enzyme 9.9E-08 0.538 0.692
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
AGRN O00468 agrin 5.5E-07 0.626 0.538
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
ATP6AP2 O75787 ATPase H+ transporting accessory protein 2 Receptor 0.87 0.525 0.769
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
BSND Q8WZ55 barttin CLCNK type accessory subunit beta 1.1E-10 0.603 0.692
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
CLCNKA P51800 chloride voltage-gated channel Ka Ion channel 4.2E-17 0.711 0.385
CLCNKB P51801 chloride voltage-gated channel Kb Ion channel 1.4E-22 0.593 0.692
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DMD P11532 dystrophin 1.00 0.423 0.923
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FDX2 Q6P4F2 ferredoxin 2 1.7E-03 0.780 0.346
FGD4 Q96M96 FYVE, RhoGEF and PH domain containing 4 Enzyme modulator 9.8E-03 0.678 0.462